AiPD: Autoinhibited Protein Database

Q12965

Gene name	MYO1E (MYO1C)
Protein name	Unconventional myosin-Ie
Names	Myosin-Ic, Unconventional myosin 1E
Species	Homo sapiens (Human)
KEGG Pathway	hsa:4643
EC number
Protein Class

Descriptions

The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.

Autoinhibitory domains (AIDs)

880-1045 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

880-1045 (Predicted disordered autoinhibitory region)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

References

Yeon JH et al. (2016) "Systems-wide Identification of cis-Regulatory Elements in Proteins", Cell Systems, 2, 89-100

Autoinhibited structure

Activated structure

1 structures for Q12965

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q12965-F1	Predicted				AlphaFoldDB

944 variants for Q12965

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
VAR_087568	47	Y>del	FSGS6 [UniProt]	Yes	UniProt
VAR_087569	119	T>I	FSGS6; results in altered clathrin-coated vesicle dynamics when expressed in a heterolgous system; severely decreased localization to cell-cell junctions and clathrin-coated vesicles [UniProt]	Yes	UniProt
RCV000023110 VAR_065958 rs387906807 CA129010	159	A>P	Focal segmental glomerulosclerosis 6 (fsgs6) Focal segmental glomerulosclerosis 6 FSGS6; the mutant shows diffuse cytosolic localization with a punctate pattern [Ensembl, ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt dbSNP gnomAD
rs763194287 RCV002563133 COSM1678505 CA7590316 RCV002484244 RCV001228223	163	R>W	large_intestine Focal segmental glomerulosclerosis 6 Inborn genetic diseases [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD
RCV000596763 CA7590283 RCV001555471 VAR_065959 rs141565214 RCV002483616	185	D>G	Focal segmental glomerulosclerosis 6 [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV002486379 CA7590241 RCV001341522 rs753956205	234	Y>C	Focal segmental glomerulosclerosis 6 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs369774689 RCV002486409 RCV002547452 CA7590220 RCV001346236	258	T>A	Focal segmental glomerulosclerosis 6 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV001340096 rs375751619 CA7590180 RCV002486368	280	A>V	Focal segmental glomerulosclerosis 6 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA7590176 RCV001246778 RCV002568663 rs777480960	287	N>S	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001860445 COSM1373821 RCV000624063 CA392650714 rs1477519647	352	R>W	Variant assessed as Somatic; 0.0 impact. large_intestine Inborn genetic diseases [NCI-TCGA, Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar NCI-TCGA dbSNP gnomAD
VAR_087570	388	D>H	FSGS6; loss of microfilament motor activity; results in altered clathrin-coated vesicle dynamics when expressed in a heterolgous system; no effect on localization to cell-cell junctions and clathrin-coated vesicles [UniProt]	Yes	UniProt
RCV002504222 rs371914169 RCV001195705 CA7589943	472	A>V	Focal segmental glomerulosclerosis 6 Nephrotic syndrome [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV001328211 CA7589584 rs781347673 VAR_087571	523	R>W	Nephrotic syndrome probable disease-associated variant found in a patient with steroid-resistant nephrotic syndrome [ClinVar, UniProt]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD UniProt
RCV002284199 CA7589580 RCV002294336 RCV000879892 RCV000454984 rs140447165	531	I>M	Kidney disorder [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs372880204 RCV002476441 CA7589555 RCV001312311 RCV002545047	540	P>T	Focal segmental glomerulosclerosis 6 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA7589515 RCV001297587 rs143249432 RCV002543059	571	D>E	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA7589509 rs370199714 RCV001318700 RCV002504495	583	Y>H	Focal segmental glomerulosclerosis 6 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000597360 RCV002506429 rs368888160 CA7589401	667	D>N	Focal segmental glomerulosclerosis 6 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs1596351849 CA392639243 RCV000995815	687	L>S	Focal segmental glomerulosclerosis 6 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000023111 rs778868018 CA392639141	695	Y>*	Focal segmental glomerulosclerosis 6 (fsgs6) Focal segmental glomerulosclerosis 6 [Ensembl, ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA7589316 RCV001324958 RCV002546121 rs201037244	749	E>V	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001296413 RCV002476378 CA7589243 rs376718983	824	V>L	Focal segmental glomerulosclerosis 6 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV001090834 RCV001334356 CA7589179 rs147596471	876	T>R	Focal segmental glomerulosclerosis 6 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs2079495070 RCV001281188	970	Q>*	Focal segmental glomerulosclerosis 6 [ClinVar]	Yes	ClinVar dbSNP
RCV001328212 rs2079386835	1032	T>missing	Nephrotic syndrome [ClinVar]	Yes	ClinVar dbSNP
rs1272805516 CA392651526	2	G>E		No	ClinGen gnomAD
rs751915379 CA7590482	3	S>R		No	ClinGen ExAC gnomAD
CA392651512 rs1343348705	4	K>N		No	ClinGen gnomAD
CA7590481 rs766709830	5	G>D		No	ClinGen ExAC gnomAD
CA7590479 rs139963172	6	V>A		No	ClinGen ESP ExAC gnomAD
CA7590480 rs763488408	6	V>I		No	ClinGen ExAC gnomAD
rs765316403 CA7590478	7	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA392651488 rs1363623509	8	Q>H		No	ClinGen TOPMed gnomAD
CA392651477 rs1414916047	10	H>D		No	ClinGen gnomAD
CA7590477 rs761815828 COSM3667776	10	H>R	liver [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA392651470 rs368202942	11	W>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA7590476 rs368202942	11	W>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1456496520 CA392651461	12	Q>*		No	ClinGen TOPMed
rs1456496520 CA392651462	12	Q>E		No	ClinGen TOPMed
CA7590475 rs542281660	15	N>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA392651422 rs1384080304	17	K>R		No	ClinGen TOPMed
CA392651410 rs761037623	19	S>G		No	ClinGen ExAC TOPMed gnomAD
rs761037623 CA7590474	19	S>R		No	ClinGen ExAC TOPMed gnomAD
CA392651400 rs1188529507	20	G>D		No	ClinGen gnomAD
CA392651397 rs1231572738	21	V>M		No	ClinGen TOPMed
CA392651383 rs1249654396 COSM1373827	23	D>N	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs770670577 CA7590472	25	V>M		No	ClinGen ExAC gnomAD
CA7590470 rs777593286	26	L>P		No	ClinGen ExAC gnomAD
CA7590467 rs780744709	28	S>C		No	ClinGen ExAC gnomAD
CA392651343 rs1339130635	29	K>R		No	ClinGen gnomAD
rs1336334941 CA392651333	30	I>M		No	ClinGen TOPMed gnomAD
CA392651327 rs1487069990	31	T>I		No	ClinGen TOPMed
CA392651318 rs1285841837	33	N>D		No	ClinGen TOPMed gnomAD
CA271815095 rs904444106	33	N>S		No	ClinGen TOPMed
CA7590465 rs754609409	34	S>F		No	ClinGen ExAC gnomAD
CA392651304 rs1384902541	35	I>T		No	ClinGen gnomAD
CA7590464 rs751256718	35	I>V		No	ClinGen ExAC TOPMed gnomAD
COSM963449 CA7590462 rs140521814	36	V>M	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs1462899049 CA392651295	37	E>K		No	ClinGen gnomAD
rs1596394666 CA392651283	38	N>S		No	ClinGen Ensembl
rs368623244 CA271815071	39	L>M		No	ClinGen ESP
CA7590461 rs144101392	41	K>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs753955994 CA7590458	43	Y>*		No	ClinGen ExAC TOPMed gnomAD
CA7590459 rs757905730	43	Y>H		No	ClinGen ExAC TOPMed gnomAD
rs764319686 CA392651219	47	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA7590457 rs764319686	47	Y>S		No	ClinGen ExAC TOPMed gnomAD
CA392651203 rs1451422895	49	F>Y		No	ClinGen gnomAD
CA392650584 rs1217080567	51	Y>C		No	ClinGen gnomAD
TCGA novel	52	I>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA271807898 rs899234995	52	I>V		No	ClinGen gnomAD
rs1303677916 CA392650563	54	S>F		No	ClinGen gnomAD
rs756283365 CA7590439	60	N>S		No	ClinGen ExAC gnomAD
rs756283365 CA392650527	60	N>T		No	ClinGen ExAC gnomAD
TCGA novel	64	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA392650500 rs1357211430	64	Q>E		No	ClinGen TOPMed
CA7590437 rs767634760	68	F>Y		No	ClinGen ExAC gnomAD
CA392650445 rs1175733535	71	K>R		No	ClinGen gnomAD
CA392650444 rs1175733535	71	K>T		No	ClinGen gnomAD
rs1448078719 CA392650441	72	E>K		No	ClinGen gnomAD
CA392650429 rs1187629483	73	I>T		No	ClinGen gnomAD
rs759865434 CA7590436	73	I>V		No	ClinGen ExAC TOPMed gnomAD
rs772866994 CA7590435	74	E>K		No	ClinGen ExAC gnomAD
CA7590434 rs765063960	75	M>T		No	ClinGen ExAC gnomAD
CA392650403 rs1409227842	77	Q>E		No	ClinGen TOPMed
CA7590433 rs761702083	78	G>R		No	ClinGen ExAC TOPMed gnomAD
rs1036473071 CA392650388	79	A>G		No	ClinGen gnomAD
rs776575077 CA7590432	79	A>T		No	ClinGen ExAC
CA271807862 rs1036473071	79	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs889123030 CA271804691	81	Q>K		No	ClinGen TOPMed gnomAD
CA7590412 COSM963447 rs764965073	82	Y>H	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA7590411 rs761612504	85	P>L		No	ClinGen ExAC TOPMed gnomAD
rs930560769 CA271804666	86	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA7590409 rs764018248	88	I>M		No	ClinGen ExAC gnomAD
rs772877405 CA7590408	89	Y>C		No	ClinGen ExAC gnomAD
rs1260928612 CA392650046	90	A>T		No	ClinGen TOPMed
CA392650029 rs1203799284	91	L>P		No	ClinGen TOPMed
rs538173068 CA7590407	91	L>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
RCV001052824 rs1372950669	92	A>E		No	ClinVar dbSNP
rs1372950669 CA392650016	92	A>G		No	ClinGen TOPMed gnomAD
CA7590406 rs771654418	92	A>P		No	ClinGen ExAC gnomAD
CA392650004 rs1436041542	93	D>G		No	ClinGen TOPMed
rs1168048880 CA392649988	94	N>S		No	ClinGen gnomAD
COSM1216380 rs1566993627 CA392649965	95	M>I	large_intestine [Cosmic]	No	ClinGen cosmic curated Ensembl
TCGA novel	95	M>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1206457879 CA392649977	95	M>V		No	ClinGen TOPMed
rs1233259175 CA392649958	96	Y>H		No	ClinGen TOPMed
rs376834689 CA7590403	99	M>I		No	ClinGen ESP ExAC gnomAD
CA7590404 rs774167901	99	M>V		No	ClinGen ExAC gnomAD
CA7590402 rs749674056	100	I>N		No	ClinGen ExAC TOPMed gnomAD
CA392649896 rs1477609825	100	I>V		No	ClinGen TOPMed
CA392649879 rs1462368133	101	I>N		No	ClinGen gnomAD
CA392649877 rs1462368133	101	I>T		No	ClinGen gnomAD
CA392649883 rs1427986176	101	I>V		No	ClinGen gnomAD
CA7590401 rs577500183	102	D>E		No	ClinGen 1000Genomes ExAC gnomAD
CA392649830 rs1427506362	105	N>H		No	ClinGen TOPMed
rs4130243 CA271804610	105	N>T		No	ClinGen TOPMed gnomAD
rs1387385167 CA392649813	106	Q>*		No	ClinGen gnomAD
rs1471315769 CA392649806	106	Q>R		No	ClinGen gnomAD
CA7590399 rs748736002	108	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1179281926 CA392647021	113	E>K		No	ClinGen TOPMed
rs752517897 CA7590369	115	G>C		No	ClinGen ExAC TOPMed
rs767493374 CA7590368	115	G>V		No	ClinGen ExAC gnomAD
rs751096968 CA7590366	118	K>R		No	ClinGen ExAC gnomAD
rs766032411 CA7590365	121	A>S		No	ClinGen ExAC gnomAD
rs766032411 RCV001254655	121	A>T		No	ClinVar dbSNP
CA7590364 rs762659988	122	A>G		No	ClinGen ExAC gnomAD
rs1427785246 CA392646852	122	A>T		No	ClinGen gnomAD
CA392646816 rs1482305657	123	K>R		No	ClinGen gnomAD
CA392646820 rs1482305657	123	K>T		No	ClinGen gnomAD
CA392646803 rs1173635015	124	Y>C		No	ClinGen TOPMed
CA392646776 rs1211818226	125	I>T		No	ClinGen gnomAD
rs1272849422 CA392646760	126	M>I		No	ClinGen TOPMed gnomAD
rs1350533470 CA392646764	126	M>T		No	ClinGen TOPMed gnomAD
rs776931350 CA7590360	127	S>R		No	ClinGen ExAC TOPMed gnomAD
CA392646716 rs1444150539	128	Y>H		No	ClinGen TOPMed
CA392646689 RCV000723067 rs1566988453	129	I>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ClinVar Ensembl NCI-TCGA dbSNP
CA392646613 rs1327587994	133	S>C		No	ClinGen gnomAD
CA7590359 rs769196683	135	G>E		No	ClinGen ExAC TOPMed gnomAD
CA392646588 rs1308354614	135	G>R		No	ClinGen TOPMed
CA271788384 rs867926865	136	G>E		No	ClinGen Ensembl
CA271788352 rs1011793388	140	Q>K		No	ClinGen Ensembl
CA7590357 rs775516893	140	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs780146456 CA7590329	141	H>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs369425689 CA7590330	141	H>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA392645073 rs758478367	142	V>L		No	ClinGen ExAC gnomAD
CA7590328 rs758478367	142	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA392645063 rs1427649224	143	K>N		No	ClinGen TOPMed
CA7590327 rs749937776	145	I>V		No	ClinGen ExAC gnomAD
rs778336327 CA7590326	147	L>V		No	ClinGen ExAC gnomAD
CA392645034 rs1487961970	148	Q>*		No	ClinGen gnomAD
CA7590325 rs756907895	150	N>D		No	ClinGen ExAC gnomAD
CA392645020 rs1176784610	150	N>I		No	ClinGen TOPMed
CA7590324 rs753468472	151	P>A		No	ClinGen ExAC gnomAD
COSM963445 CA392645011 rs1336143871	151	P>L	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA392645009 rs761044064	152	L>V		No	ClinGen ExAC TOPMed gnomAD
rs1373359578 CA392644991	155	A>T		No	ClinGen TOPMed
rs768004097 CA7590321	156	F>L		No	ClinGen ExAC TOPMed gnomAD
rs867651902 CA271785212	157	G>E		No	ClinGen Ensembl
rs1281227967 CA392644979	157	G>R		No	ClinGen TOPMed
CA271785206 rs908199783	158	N>S		No	ClinGen TOPMed
CA392644967 rs387906807	159	A>T	Focal segmental glomerulosclerosis 6 (fsgs6) [Ensembl]	No	ClinGen gnomAD
CA392644965 rs1470594549	159	A>V		No	ClinGen gnomAD
CA392644954 rs1596376837	161	T>P		No	ClinGen Ensembl
COSM1373825 rs770956809 CA7590317	162	V>I	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs770956809 CA392644947	162	V>L		No	ClinGen ExAC TOPMed gnomAD
CA7590315 rs577478726	163	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs768510980 CA7590314	166	N>T		No	ClinGen ExAC gnomAD
CA7590313 rs746797947	167	S>P		No	ClinGen ExAC gnomAD
TCGA novel	169	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs780053874 CA7590312	169	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA392644294 rs1337438947	172	K>R		No	ClinGen gnomAD
CA7590287 rs777319414	174	F>C		No	ClinGen ExAC gnomAD
rs1431629763 CA392644246	174	F>V		No	ClinGen TOPMed gnomAD
rs777319414 CA392644242	174	F>Y		No	ClinGen ExAC gnomAD
rs549342934 CA7590285	179	S>G		No	ClinGen 1000Genomes ExAC gnomAD
rs1040640702 CA271783297	179	S>N		No	ClinGen Ensembl
rs765938827 CA271783292	183	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs765938827 CA392644067	183	E>Q		No	ClinGen gnomAD
rs1232181688 CA392644027	185	D>N		No	ClinGen TOPMed
rs545728678 CA7590282	186	G>V		No	ClinGen 1000Genomes ExAC gnomAD
CA7590281 rs766799781	191	N>S		No	ClinGen ExAC gnomAD
CA271783275 rs868286819	197	S>F		No	ClinGen Ensembl
TCGA novel	197	S>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs186526159 CA7590278	197	S>P		No	ClinGen 1000Genomes ExAC gnomAD
rs762087916 CA7590277	199	V>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	200	V>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1050459753 CA271783269	200	V>L		No	ClinGen TOPMed gnomAD
CA392643771 rs1291443750	201	M>L		No	ClinGen gnomAD
CA392643754 rs1187319713	202	R>T		No	ClinGen TOPMed
rs374988950 CA392643731	204	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs374988950 CA7590276	204	P>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1426140610 CA392643704	206	E>G		No	ClinGen TOPMed
TCGA novel	206	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM1216381 CA271783257 rs749647245	207	R>Q	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs559859306 CA7590274	207	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1440502137 CA392643656	210	H>D		No	ClinGen TOPMed gnomAD
rs1440502137 CA392643654	210	H>Y		No	ClinGen TOPMed gnomAD
rs1354260251 CA392643630	212	F>L		No	ClinGen gnomAD
CA392643625 rs1330158053	212	F>Y		No	ClinGen gnomAD
CA392643620 rs1412067074	213	Y>H		No	ClinGen gnomAD
CA7590255 rs368853226	216	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA7590253 rs762755368	217	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1170056721 CA392643215	218	G>C		No	ClinGen gnomAD
CA392643218 rs1170056721	218	G>S		No	ClinGen gnomAD
rs769235009 CA7590251	219	A>T		No	ClinGen ExAC TOPMed gnomAD
VAR_065960	221	A>V		No	UniProt
CA7590250 rs761315927	222	E>G		No	ClinGen ExAC gnomAD
rs1466182090 CA392643162	223	Q>E		No	ClinGen TOPMed
rs776188261 CA7590249	223	Q>R		No	ClinGen ExAC gnomAD
rs746716659 CA7590247	224	K>R		No	ClinGen ExAC gnomAD
CA7590246 rs780242757	225	H>N		No	ClinGen ExAC gnomAD
rs1242299146 CA392643127	225	H>R		No	ClinGen TOPMed
rs746323663 CA7590244	229	I>M		No	ClinGen ExAC TOPMed gnomAD
rs1185710142 CA392643068	230	T>I		No	ClinGen TOPMed
rs1344291242 CA392643055	231	S>R		No	ClinGen gnomAD
CA392643038 CA7590243 rs779570949	233	D>E		No	ClinGen ExAC gnomAD
CA7590242 rs753956205	234	Y>F		No	ClinGen ExAC TOPMed gnomAD
CA392643034 rs753956205	234	Y>S		No	ClinGen ExAC TOPMed gnomAD
rs777954602 CA7590240	235	Y>D		No	ClinGen ExAC gnomAD
TCGA novel	237	Y>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA271782292 rs372685054	238	L>V		No	ClinGen Ensembl
CA392643000 rs1406482506	239	S>T		No	ClinGen TOPMed
rs1269353482 CA392642994	240	L>F		No	ClinGen gnomAD
rs762748529 CA7590235	241	S>W		No	ClinGen ExAC gnomAD
rs761790029 CA7590232	242	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1279979671 CA392642979	243	S>P		No	ClinGen gnomAD
rs754140127 CA392642957	246	V>F		No	ClinGen TOPMed gnomAD
CA392642958 rs754140127	246	V>I		No	ClinGen TOPMed gnomAD
rs754140127 CA271782273	246	V>L		No	ClinGen TOPMed gnomAD
CA7590230 rs768244319	247	D>N		No	ClinGen ExAC gnomAD
rs760197448 CA7590229	247	D>V		No	ClinGen ExAC gnomAD
rs1229337964 CA392642944	248	D>G		No	ClinGen gnomAD
CA7590228 rs775226200	248	D>N		No	ClinGen ExAC gnomAD
rs1335784613 CA392642936	249	I>T		No	ClinGen TOPMed
rs1350571358 CA392642940	249	I>V		No	ClinGen Ensembl
rs772263070 CA392642933	250	D>N		No	ClinGen ExAC gnomAD
rs772263070 CA7590227	250	D>Y		No	ClinGen ExAC gnomAD
CA392642923 rs1373231373	251	D>G		No	ClinGen gnomAD
CA7590225 rs779481096	251	D>N		No	ClinGen ExAC gnomAD
CA392642917 rs1440900975	252	R>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA392642915 rs1440900975	252	R>M		No	ClinGen TOPMed
rs143368771 CA7590223	253	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs143368771 CA7590222	253	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA7590224 rs766780148	253	R>W		No	ClinGen ExAC TOPMed gnomAD
CA392642898 rs1334791328	254	E>Q		No	ClinGen gnomAD
rs1596373937 CA392642887	255	F>V		No	ClinGen Ensembl
CA392642869 rs1428021567	256	Q>*		No	ClinGen gnomAD
CA271782224 rs756623267	258	T>I		No	ClinGen gnomAD
rs756623267 CA392642838	258	T>S		No	ClinGen gnomAD
rs371962717 CA7590219	259	L>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs764092322	260	H>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA7590194 rs149217109	260	H>D		No	ClinGen ESP ExAC gnomAD
CA392642668 rs1393755130	261	A>S		No	ClinGen TOPMed gnomAD
CA392642671 rs1393755130	261	A>T		No	ClinGen TOPMed gnomAD
CA392642653 rs1471326207	262	M>L		No	ClinGen TOPMed
CA7590192 rs756066968	263	N>H		No	ClinGen ExAC gnomAD
rs752232450 CA7590191	263	N>S		No	ClinGen ExAC gnomAD
CA7590190 rs767172261	264	V>A		No	ClinGen ExAC gnomAD
CA392642591 rs1596373294	265	I>F		No	ClinGen Ensembl
rs1181598444 CA392642589	265	I>T		No	ClinGen gnomAD
CA7590188 rs774165824	266	G>R		No	ClinGen ExAC gnomAD
CA392642470 rs1284591149	271	E>*		No	ClinGen TOPMed gnomAD
rs1284591149 CA392642471	271	E>Q		No	ClinGen TOPMed gnomAD
CA7590187 rs766788690	273	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1209912449 CA392642379	277	Q>E		No	ClinGen gnomAD
CA7590183 rs748651105	278	I>V		No	ClinGen ExAC TOPMed gnomAD
rs776652783 CA7590182	279	V>L		No	ClinGen ExAC gnomAD
rs768748325 CA7590181	280	A>T		No	ClinGen ExAC gnomAD
CA392642304 rs1280405023	281	G>C		No	ClinGen TOPMed
CA392642309 rs1280405023	281	G>S		No	ClinGen TOPMed
rs1278961715 CA392642288	282	I>V		No	ClinGen Ensembl
CA7590178 RCV001261427 rs758689659	283	L>F		No	ClinGen ClinVar ExAC dbSNP gnomAD
rs986328003 CA392642243	284	H>Q		No	ClinGen TOPMed gnomAD
TCGA novel	285	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs749100849 CA7590177	287	N>D		No	ClinGen ExAC TOPMed gnomAD
rs369962506 CA7590174	288	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA7590175 rs372477809 RCV000898960	288	I>V		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA392642136 rs1247791587	291	K>E		No	ClinGen gnomAD
CA7590172 rs754545171	291	K>R		No	ClinGen ExAC gnomAD
rs1452804764 CA392642093	293	V>A		No	ClinGen gnomAD
rs1182954984 CA392642081	294	G>S		No	ClinGen TOPMed
CA392642043 rs766124467	296	Y>C		No	ClinGen ExAC gnomAD
rs766124467 CA7590170	296	Y>F		No	ClinGen ExAC gnomAD
CA271781449 rs1027806597	297	A>T		No	ClinGen Ensembl
rs750776490 CA7590168	297	A>V		No	ClinGen ExAC TOPMed gnomAD
rs762333964 CA7590166	298	A>S		No	ClinGen ExAC TOPMed gnomAD
CA392642002 rs762333964	298	A>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	300	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs2079966072 RCV001297156	301	S>G		No	ClinVar dbSNP
CA392641940 rs1275335545	301	S>I		No	ClinGen gnomAD
rs373648216 CA7590165	302	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs373648216 CA392641931	302	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1317921050 CA392641877	304	F>I		No	ClinGen TOPMed gnomAD
rs1379396592 CA392651022	304	F>L		No	ClinGen gnomAD
CA271821390 rs369132214	306	A>V		No	ClinGen ESP TOPMed
CA7590127 rs148823974	307	F>L		No	ClinGen 1000Genomes ExAC gnomAD
rs145427071 CA7590126	308	P>T		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	309	A>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs756577070 CA7590125	309	A>V		No	ClinGen ExAC gnomAD
CA7590123 rs767571342	310	Y>*		No	ClinGen ExAC gnomAD
rs745904531 CA7590121	313	G>E		No	ClinGen ExAC TOPMed gnomAD
CA392650972 rs745904531	313	G>V		No	ClinGen ExAC TOPMed gnomAD
rs766495506 CA7590120	315	N>K		No	ClinGen ExAC gnomAD
rs112484008 CA392650944	317	D>A		No	ClinGen Ensembl
rs112484008 CA271821268	317	D>G		No	ClinGen Ensembl
CA392650938 rs763313565	318	R>L		No	ClinGen ExAC TOPMed gnomAD
rs763313565 CA7590119	318	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA392650940 rs1242753330	318	R>W		No	ClinGen TOPMed gnomAD
CA7590118 rs776535741	319	L>V		No	ClinGen ExAC gnomAD
CA392650923 rs1294942693	321	E>K		No	ClinGen gnomAD
rs1566982425 CA392650915	322	K>E		No	ClinGen Ensembl
CA392650905 rs1359495637	323	L>Q		No	ClinGen gnomAD
CA392650906 rs1397680907	323	L>V		No	ClinGen gnomAD
CA7590115 rs546799247	324	T>K		No	ClinGen 1000Genomes ExAC gnomAD
CA7590116 rs546799247	324	T>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
CA7590113 rs150397493	326	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1427276872 CA392650886	327	Q>K		No	ClinGen TOPMed gnomAD
rs1184851046 CA392650870	328	M>I		No	ClinGen gnomAD
CA392650862 rs1248479062	329	D>E		No	ClinGen TOPMed
rs1467004620 CA392650860	330	S>G		No	ClinGen gnomAD
TCGA novel	331	K>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs756874781 CA7590110	332	W>C		No	ClinGen ExAC TOPMed gnomAD
rs778537180 CA7590111	332	W>L		No	ClinGen ExAC TOPMed gnomAD
rs748975566 CA7590109 COSM218482	333	G>R	pancreas [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1002149740 CA271821217	335	K>I		No	ClinGen Ensembl
CA392650812 rs1328393938	337	E>*		No	ClinGen gnomAD
CA7590106 rs753176823	338	S>C		No	ClinGen ExAC TOPMed gnomAD
CA392650802 rs753176823	338	S>F		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	341	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs767903303 CA7590105	341	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1216243506 CA392650775	343	L>V		No	ClinGen gnomAD
rs766518463 CA7590102	345	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1466547274 CA392650753	346	E>G		No	ClinGen gnomAD
CA7590100 rs144731469	346	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs763915142 CA7590099	348	A>S		No	ClinGen ExAC gnomAD
CA392650731 rs1273920465	349	C>F		No	ClinGen gnomAD
CA7590098 rs760542372	351	T>A		No	ClinGen ExAC gnomAD
CA7590097 rs775415020	352	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs754791632 CA7590096	353	D>H		No	ClinGen ExAC gnomAD
rs200925200 CA271821140	354	A>V		No	ClinGen gnomAD
rs748877847 CA7590093	356	A>S		No	ClinGen ExAC TOPMed gnomAD
rs748877847 CA7590092	356	A>T		No	ClinGen ExAC TOPMed gnomAD
rs769500621 CA7590090	358	A>S		No	ClinGen ExAC gnomAD
TCGA novel	358	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA392650661 rs1311812085	361	A>S		No	ClinGen TOPMed gnomAD
CA392650663 rs1311812085	361	A>T		No	ClinGen TOPMed gnomAD
CA7590085 rs780232009	362	R>Q		No	ClinGen ExAC gnomAD
CA7590086 rs752138428 COSM1373820	362	R>W	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA7590084 rs758557865	364	F>L		No	ClinGen ExAC gnomAD
CA7590083 rs750597772	366	F>L		No	ClinGen ExAC gnomAD
CA392650610 rs1566982308	369	D>A		No	ClinGen Ensembl
CA7590082 rs765544569	369	D>E		No	ClinGen ExAC
rs1596370831 CA392650612	369	D>N		No	ClinGen Ensembl
rs375942900 CA271817807	370	S>C		No	ClinGen ESP TOPMed gnomAD
CA7590058 rs766287971	370	S>P		No	ClinGen ExAC gnomAD
CA7590056 rs772676497	371	I>M		No	ClinGen ExAC TOPMed gnomAD
CA7590057 rs562545489	371	I>V		No	ClinGen 1000Genomes ExAC gnomAD
rs1240330961 CA392650363	372	N>S		No	ClinGen gnomAD
CA7590055 RCV001341512 rs373863967	375	M>V		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs761323040 CA7590054	377	K>R		No	ClinGen ExAC gnomAD
rs776358755 CA7590053	378	D>H		No	ClinGen ExAC gnomAD
rs150983259 CA7590052	379	H>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs150983259 CA392650314	379	H>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs369998755 CA7590050	380	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA7590049 rs772677451	383	N>I		No	ClinGen ExAC TOPMed gnomAD
CA392650280 rs772677451	383	N>S		No	ClinGen ExAC TOPMed gnomAD
CA7590048 rs532260829	384	I>F		No	ClinGen 1000Genomes ExAC gnomAD
rs142638347 CA7590047	384	I>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA392650276 rs532260829	384	I>V		No	ClinGen 1000Genomes ExAC gnomAD
rs1260565102 CA392650266	386	V>I		No	ClinGen TOPMed gnomAD
rs756345422 CA7590043	390	Y>C		No	ClinGen ExAC gnomAD
TCGA novel	393	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs766199953 CA7590041	396	Q>*		No	ClinGen ExAC gnomAD
rs1566981199 CA392650192	396	Q>H		No	ClinGen Ensembl
rs199708161 CA271817660	396	Q>R		No	ClinGen Ensembl
TCGA novel	398	N>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1032442139 CA271817309	399	G>S		No	ClinGen TOPMed gnomAD
TCGA novel	399	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1185285321 CA392650061	403	F>L		No	ClinGen TOPMed gnomAD
rs1456506110 CA392650052	404	C>G		No	ClinGen gnomAD
TCGA novel	405	I>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
RCV001322646 rs763406965 CA7590008	405	I>V		No	ClinGen ClinVar ExAC dbSNP gnomAD
rs1316369420 CA392649991	408	V>A		No	ClinGen TOPMed
rs1309540713 CA392649998	408	V>I		No	ClinGen TOPMed gnomAD
rs1417166064 CA392649980	409	N>S		No	ClinGen gnomAD
TCGA novel	410	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1236965769 CA392649939	412	L>V		No	ClinGen TOPMed
CA392649868 rs1483543816	417	I>T		No	ClinGen gnomAD
rs781396232 CA7590004	417	I>V		No	ClinGen ExAC gnomAD
CA392649855 rs1376788021	418	E>A		No	ClinGen gnomAD
rs565008797 CA271817260	418	E>D		No	ClinGen 1000Genomes
rs768932544 CA7590003	418	E>Q		No	ClinGen ExAC gnomAD
rs745640612 CA392649846	419	L>V		No	ClinGen ExAC TOPMed gnomAD
CA271817252 rs370952210	423	A>T		No	ClinGen Ensembl
rs1291434734 CA392649697	429	V>A		No	ClinGen gnomAD
rs1566979975 CA392649701	429	V>I		No	ClinGen Ensembl
CA7589982 RCV001034885 rs190122242	431	E>A		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs764676427 CA392649682	431	E>D		No	ClinGen ExAC TOPMed gnomAD
CA392649670 rs1417602755	433	I>T		No	ClinGen gnomAD
CA7589980 rs756182946	433	I>V		No	ClinGen ExAC gnomAD
CA392649648 rs752229218	436	T>I		No	ClinGen ExAC TOPMed gnomAD
rs752229218 CA7589979	436	T>K		No	ClinGen ExAC TOPMed gnomAD
CA7589978 rs376837728	437	P>R		No	ClinGen ESP ExAC gnomAD
RCV000595847 rs1555411458	438	I>missing		No	ClinVar dbSNP
rs754634947 CA7589977	438	I>T		No	ClinGen ExAC gnomAD
rs751190700 CA7589976	441	F>Y		No	ClinGen ExAC gnomAD
CA7589975 rs766706539	445	I>V		No	ClinGen ExAC gnomAD
CA7589973 rs750866313	446	V>I		No	ClinGen ExAC TOPMed gnomAD
CA392649574 rs1488138610	447	C>S		No	ClinGen gnomAD
rs377513196 CA7589971	448	D>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs765720526 CA7589972	448	D>N		No	ClinGen ExAC gnomAD
rs764182334 CA7589969	449	L>F		No	ClinGen ExAC gnomAD
CA392649559 rs771020473	450	I>L		No	ClinGen TOPMed
rs771020473 CA271814830	450	I>V		No	ClinGen TOPMed
TCGA novel	451	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs775582897 CA7589967	454	V>M		No	ClinGen ExAC gnomAD
rs1284552843 CA392649508	455	N>T		No	ClinGen TOPMed
rs1596366455 CA392649502	456	P>S		No	ClinGen Ensembl
rs764091785 CA7589951	457	P>A		No	ClinGen ExAC TOPMed
CA392649498 rs764091785	457	P>T		No	ClinGen ExAC TOPMed
rs760663511 CA392649486	459	I>F		No	ClinGen ExAC TOPMed gnomAD
rs1383671001 CA392649483	459	I>S		No	ClinGen gnomAD
rs760663511 CA7589950	459	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1376921999 CA392649475	460	M>I		No	ClinGen gnomAD
CA271813718 rs954008779	461	S>R		No	ClinGen TOPMed
CA7589948 rs759846809	465	D>E		No	ClinGen ExAC TOPMed gnomAD
CA392649442 rs1453487948	465	D>G		No	ClinGen gnomAD
CA271813710 rs138436618	465	D>N		No	ClinGen 1000Genomes
CA392649438 rs773105280 COSM192694	466	V>L	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA7589946 rs773105280	466	V>M		No	ClinGen ExAC TOPMed gnomAD
rs748042869 CA7589944	468	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA392649416 VAR_081166 rs1173043275	469	T>M		No	ClinGen UniProt TOPMed dbSNP gnomAD
CA392649414 rs1476525824	470	M>V		No	ClinGen TOPMed
rs371914169 CA392649394	472	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA392649398 rs1422397404	472	A>T		No	ClinGen gnomAD
CA7589940 rs779664009	473	V>M		No	ClinGen ExAC gnomAD
rs1037256063 CA271813671	474	G>C		No	ClinGen TOPMed gnomAD
CA392649388 rs1037256063	474	G>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA392649382 rs1244503630	475	E>K		No	ClinGen gnomAD
CA392649354 rs1407200447	479	Q>E		No	ClinGen TOPMed
rs757947059 CA7589939	480	T>M		No	ClinGen ExAC TOPMed gnomAD
CA7589937 rs779188831	483	Q>*		No	ClinGen ExAC gnomAD
rs1297837201 CA392649327	483	Q>L		No	ClinGen TOPMed
CA7589935 rs754265600	487	M>R		No	ClinGen ExAC gnomAD
rs1244327750 CA392649292	488	Q>*		No	ClinGen TOPMed
CA392649286 rs1246706391	489	I>L		No	ClinGen gnomAD
rs141500916 CA7589934	489	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA392649274 rs1446093560	491	S>C		No	ClinGen gnomAD
rs867793512 CA271813648	491	S>N		No	ClinGen Ensembl
rs1596366358 CA392649226	497	S>G		No	ClinGen Ensembl
rs947621972 CA271813609	499	N>K		No	ClinGen TOPMed
rs1187700785 CA392649190	501	G>V		No	ClinGen TOPMed
CA392649178 rs1164606928	503	I>N		No	ClinGen gnomAD
CA392649176 rs1164606928	503	I>S		No	ClinGen gnomAD
CA392649173 rs1447024455	504	I>V		No	ClinGen gnomAD
RCV001806123 rs139820649 RCV001325344 CA7589931	505	H>N		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA7589587 rs777371344	511	V>I		No	ClinGen ExAC gnomAD
CA392644380 rs777371344	511	V>L		No	ClinGen ExAC gnomAD
CA392644365 rs1445411416	512	S>F		No	ClinGen gnomAD
rs1004815756 CA271810889	516	D>G		No	ClinGen TOPMed gnomAD
TCGA novel	516	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1334590193 CA392644273	517	G>V		No	ClinGen gnomAD
CA392644271 rs1397515741	518	F>L		No	ClinGen gnomAD
rs1394251948 CA392644249	519	C>R		No	ClinGen TOPMed gnomAD
CA392644149 rs1566978038	523	R>L		No	ClinGen Ensembl
CA271810884 rs887294775	524	D>H		No	ClinGen Ensembl
CA392644143 rs887294775	524	D>N		No	ClinGen Ensembl
CA7589583 rs755368617	525	V>M		No	ClinGen ExAC gnomAD
CA271810882 rs765263794	531	I>V		No	ClinGen Ensembl
rs750464275 CA7589579	532	E>A		No	ClinGen ExAC gnomAD
rs939418294 CA271810864	534	M>I		No	ClinGen gnomAD
CA7589578 rs765382171	534	M>T		No	ClinGen ExAC gnomAD
rs753630779 CA271810862	535	Q>L		No	ClinGen Ensembl
CA271810855 rs766281016	536	S>N		No	ClinGen TOPMed gnomAD
CA7589577 rs761872811	538	E>K		No	ClinGen ExAC TOPMed gnomAD
RCV000995364 CA7589576 rs139049058	539	L>M		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1188839265 CA392643860	539	L>R		No	ClinGen TOPMed
CA7589557 rs372880204	540	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs751350209 CA7589554	540	P>H		No	ClinGen ExAC gnomAD
rs372880204 CA7589556	540	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA7589552 rs762919779	542	I>M		No	ClinGen ExAC gnomAD
CA7589553 rs554915757	542	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs773198300 CA7589551	544	S>C		No	ClinGen ExAC TOPMed gnomAD
rs1265508722 CA392643561	545	L>S		No	ClinGen TOPMed
rs1034413190 CA271808923	546	F>L		No	ClinGen Ensembl
rs150735139 CA7589548	547	P>L	Variant assessed as Somatic; 4.621e-05 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs765146471 CA7589549	547	P>S		No	ClinGen ExAC TOPMed gnomAD
CA271808887 rs1020273476	548	E>D		No	ClinGen TOPMed gnomAD
CA7589546 rs768261413	548	E>G		No	ClinGen ExAC gnomAD
rs1160407172 CA392643521	551	Q>H		No	ClinGen TOPMed gnomAD
CA7589545 rs746688811	552	A>T		No	ClinGen ExAC TOPMed gnomAD
CA392643506 rs1162255026	554	K>E		No	ClinGen TOPMed gnomAD
CA392643483 RCV000722363 rs1178412708	557	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ClinVar NCI-TCGA TOPMed dbSNP
COSM963434 rs775776382 CA7589544	557	R>H	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA7589542 rs746273918	560	T>A		No	ClinGen ExAC TOPMed gnomAD
CA392643458 rs1566977342	561	A>V		No	ClinGen Ensembl
rs1267027979 RCV001052823 CA392643457	562	G>R		No	ClinGen ClinVar TOPMed dbSNP gnomAD
CA392643451 rs1442424071	563	S>R		No	ClinGen TOPMed
rs757740535 CA7589540	564	K>E		No	ClinGen ExAC TOPMed gnomAD
COSM365683 rs1331025997 CA392643430	565	I>M	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
rs769992142 CA7589518	568	Q>H		No	ClinGen ExAC gnomAD
rs1361424148 CA392642713	568	Q>K		No	ClinGen gnomAD
rs147508153 CA7589517	569	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs781544197 CA7589516	570	N>S		No	ClinGen ExAC TOPMed gnomAD
CA392642641 rs1429949130	572	L>I		No	ClinGen gnomAD
rs1181073319 CA392642624	573	V>L		No	ClinGen TOPMed gnomAD
rs1181073319 CA392642626	573	V>M		No	ClinGen TOPMed gnomAD
rs1596360176 CA392642598	574	S>N		No	ClinGen Ensembl
CA392642592 rs1483421130	574	S>R		No	ClinGen gnomAD
rs1174625581 CA392642526	578	K>I		No	ClinGen TOPMed
rs757163988 CA7589512	580	T>M	Variant assessed as Somatic; 0.0001848 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA7589508 rs367623827	583	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA7589507 rs373643814	584	I>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs373643814 CA7589506	584	I>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA392642410 rs373643814	584	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA392642395 rs1264618206	585	R>C		No	ClinGen TOPMed
rs183502749 CA7589504	587	I>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs183502749 CA7589505	587	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs11539755 COSM170501 CA271801189	591	E>K	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA392642242 rs1363912921	592	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs375289978 CA271801171	593	K>R		No	ClinGen Ensembl
CA392642213 rs1371656117	594	K>E		No	ClinGen gnomAD
CA271801169 rs28660684	594	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs770473779 CA7589501	595	P>H		No	ClinGen ExAC gnomAD
rs138152716 CA271801166	597	D>E		No	ClinGen ESP gnomAD
CA7589500 rs528984408	598	W>G		No	ClinGen 1000Genomes ExAC gnomAD
rs1416958654 CA392642069	600	E>A		No	ClinGen gnomAD
CA7589499 rs781454232	601	S>I		No	ClinGen ExAC gnomAD
rs762347672	602	R>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs1253141013 RCV001324170 CA392641354	608	E>G		No	ClinGen ClinVar TOPMed dbSNP
COSM170997 CA392641358 rs1264355169	608	E>K	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
TCGA novel	609	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	616	I>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1344931713 CA392641292	617	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs775668256 CA7589461	617	R>Q		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	618	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1451155153 CA392641280	619	R>T		No	ClinGen gnomAD
CA392641269 rs1237126660	621	A>S		No	ClinGen gnomAD
rs112973782 CA271795733	623	Y>C		No	ClinGen gnomAD
rs1433972657 CA392641240	625	Y>C		No	ClinGen TOPMed gnomAD
rs772923030 CA7589459	626	R>G		No	ClinGen ExAC TOPMed gnomAD
rs769572989 CA7589457	626	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs772923030 CA7589458	626	R>W		No	ClinGen ExAC TOPMed gnomAD
CA7589456 rs747994476	627	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1401423250 COSM963432 CA392641232	627	R>H	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs1436499170 CA392641203	631	K>T		No	ClinGen gnomAD
CA7589454 rs201046072	632	F>C		No	ClinGen 1000Genomes ExAC gnomAD
CA7589452 rs779639091	633	L>R		No	ClinGen ExAC gnomAD
CA392641181 rs1195881617	634	Q>H		No	ClinGen gnomAD
CA271795667 rs918863992	635	R>K		No	ClinGen Ensembl
rs1356846658 CA392640297	637	A>V		No	ClinGen gnomAD
CA7589419 rs776231669	643	T>A		No	ClinGen ExAC gnomAD
CA271786422 rs768505368	643	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA7589418 rs768505368	643	T>S		No	ClinGen ExAC gnomAD
CA392640261 rs776231669	643	T>S		No	ClinGen ExAC gnomAD
CA392640251 rs1183614185	644	W>C		No	ClinGen gnomAD
CA271786414 rs866819750	646	S>F		No	ClinGen Ensembl
CA392640231 rs1471422534	647	W>C		No	ClinGen TOPMed gnomAD
CA7589417 rs376503701	648	Q>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA392640223 rs1196068660	649	G>R		No	ClinGen gnomAD
CA7589416 rs775557175	651	E>D		No	ClinGen ExAC gnomAD
CA7589415 rs772188447	652	K>*		No	ClinGen ExAC
CA7589413 rs150415919	653	Q>E		No	ClinGen ESP ExAC gnomAD
CA7589412 rs373083141	653	Q>H		No	ClinGen ESP ExAC gnomAD
rs748971162 CA7589410	655	V>I		No	ClinGen ExAC TOPMed gnomAD
CA392640165 rs1273189164	658	L>M		No	ClinGen gnomAD
rs777354701 CA7589409	660	Q>R		No	ClinGen ExAC gnomAD
VAR_087572	660	Q>del	probable disease-associated variant found in a patient with steroid-resistant, minimal change nephrotic syndrome [UniProt]	No	UniProt
CA7589408 COSM963431 rs756487866	661	S>L	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA392640129 rs1396413139	662	V>I		No	ClinGen TOPMed
rs1388414192 CA392640107	663	N>K		No	ClinGen gnomAD
TCGA novel	663	N>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs141465684 CA7589405	664	M>T		No	ClinGen ESP ExAC gnomAD
CA7589406 rs781640480	664	M>V		No	ClinGen ExAC gnomAD
CA7589404 rs751592531	666	S>G		No	ClinGen ExAC gnomAD
rs766461547 CA7589403	666	S>N		No	ClinGen ExAC TOPMed gnomAD
rs368888160 CA392640065	667	D>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs572308613 CA7589400	668	Q>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	678	I>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA392639921 rs1247210788	679	K>E		No	ClinGen gnomAD
rs1318666308 CA392639903	680	A>G		No	ClinGen gnomAD
CA392639908 COSM269670 rs1216192978	680	A>T	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA392639896 rs1276351819	681	P>S		No	ClinGen gnomAD
CA392639265 rs1170785344	684	L>Q		No	ClinGen gnomAD
CA392639217 rs1331267176	689	E>V		No	ClinGen TOPMed gnomAD
rs1411415711 CA392639199	690	M>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs747434295 CA7589366	691	R>K		No	ClinGen ExAC gnomAD
rs1475511830 CA392639178	692	E>D		No	ClinGen gnomAD
rs1350787708 CA392639186	692	E>Q		No	ClinGen TOPMed
rs758872948 CA7589365	693	R>I		No	ClinGen ExAC gnomAD
CA7589364 rs758872948	693	R>K		No	ClinGen ExAC gnomAD
CA392639166 rs1203128836	694	K>E		No	ClinGen gnomAD
rs1166617606 CA392639147	695	Y>C		No	ClinGen gnomAD
CA392639139 rs1282962090	696	D>N		No	ClinGen TOPMed
rs1206952128 CA392639127 COSM1236085	697	G>R	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1343347222 CA392639110	698	Y>C		No	ClinGen TOPMed
COSM963429 CA392639095 rs1320093613	699	A>V	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA392639092 rs1312503153	700	R>*	Variant assessed as Somatic; 4.629e-05 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA7589361 rs757483863 COSM218481	700	R>Q	Variant assessed as Somatic; 0.0 impact. pancreas large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA7589360 rs754105766	702	I>M		No	ClinGen ExAC gnomAD
CA392639063 rs1474333883	703	Q>R		No	ClinGen gnomAD
rs1409741692 CA392639040	705	S>P		No	ClinGen TOPMed gnomAD
rs1298225766 CA392638993	709	F>I		No	ClinGen gnomAD
rs762819433 CA392638960	712	R>G		No	ClinGen ExAC TOPMed gnomAD
CA7589354 rs369486853	712	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs762819433 CA7589355	712	R>W		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	713	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7589351 rs141033770	716	V>F		No	ClinGen ESP ExAC gnomAD
rs141033770 CA392638911 COSM1216384	716	V>I	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC gnomAD
CA392638891 rs1596351797	718	M>V		No	ClinGen Ensembl
CA392638855 rs1418409683	721	E>K		No	ClinGen gnomAD
rs1251365396 CA392638842	722	A>T		No	ClinGen TOPMed gnomAD
CA7589332 rs760346849	723	S>L		No	ClinGen ExAC gnomAD
rs775852572 CA7589331	724	D>A		No	ClinGen ExAC gnomAD
CA392638781 rs1392512401	724	D>H		No	ClinGen TOPMed
CA7589330 rs772316011	725	L>V		No	ClinGen ExAC gnomAD
CA392638751 rs1372673176	727	L>S		No	ClinGen gnomAD
CA392638754 rs774695459	727	L>V		No	ClinGen ExAC TOPMed gnomAD
rs375940461 CA7589327 CA392638697	731	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA7589325 rs778020742	734	R>G		No	ClinGen ExAC gnomAD
CA7589324 rs770083095	736	S>R		No	ClinGen ExAC gnomAD
CA271784255 rs981468895	739	R>K		No	ClinGen Ensembl
CA271784243 rs556636180	739	R>S		No	ClinGen 1000Genomes
CA7589322 rs201420160	740	N>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs758116528 CA7589321	742	I>V		No	ClinGen ExAC gnomAD
CA392638565 rs1447994732	743	G>E		No	ClinGen gnomAD
rs745727549 CA7589320	744	D>H		No	ClinGen ExAC gnomAD
rs778793688 CA7589319	744	D>V		No	ClinGen ExAC gnomAD
CA7589318 rs757222135	745	Y>C		No	ClinGen ExAC gnomAD
rs1279034391 CA392638532	746	I>T		No	ClinGen TOPMed gnomAD
CA7589317 rs753299901	748	M>I		No	ClinGen ExAC gnomAD
rs1210895792 CA392638510	748	M>T		No	ClinGen gnomAD
rs143609413 CA271784215	749	E>K		No	ClinGen ESP
CA7589314 rs752276663	751	H>Q		No	ClinGen ExAC gnomAD
rs1326852614 CA392638476	751	H>R		No	ClinGen gnomAD
rs767245919 CA7589313	752	P>S		No	ClinGen ExAC TOPMed gnomAD
CA392638470 rs767245919	752	P>T		No	ClinGen ExAC TOPMed gnomAD
CA7589311 rs774807485	753	E>D		No	ClinGen ExAC gnomAD
rs8024923 CA271784176	753	E>K		No	ClinGen gnomAD
rs8024923 CA392638460	753	E>Q		No	ClinGen gnomAD
rs766943152 CA392638404	757	F>L		No	ClinGen ExAC TOPMed gnomAD
rs372456811 CA7589309	758	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1596351646 CA392638370	761	R>W		No	ClinGen Ensembl
CA392638361 rs1410300758	762	E>G		No	ClinGen gnomAD
rs773359370 CA7589308	762	E>K		No	ClinGen ExAC gnomAD
rs1375165045 CA392638344	764	I>M		No	ClinGen gnomAD
CA7589307 rs199680553	764	I>T		No	ClinGen 1000Genomes ExAC
rs1184712146 CA392638343	765	D>N		No	ClinGen TOPMed
rs541973355 CA7589304	767	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs768965755 CA7589303	768	D>G		No	ClinGen ExAC gnomAD
rs1486406732 CA392638297	769	T>K		No	ClinGen gnomAD
rs566622235 CA271784114	773	Y>F		No	ClinGen 1000Genomes
rs1194926228 CA392638248	774	D>N		No	ClinGen gnomAD
rs1194926228 CA392638247	774	D>Y		No	ClinGen gnomAD
rs1339597521 CA392638217	776	R>S		No	ClinGen gnomAD
rs1176617412 CA392638198	778	K>T		No	ClinGen gnomAD
CA7589281 rs749128052	779	G>A		No	ClinGen ExAC TOPMed gnomAD
rs749128052 CA7589280	779	G>D		No	ClinGen ExAC TOPMed gnomAD
CA7589279 rs777653954	780	V>I		No	ClinGen ExAC gnomAD
rs1274833488 CA392637823	781	K>R		No	ClinGen TOPMed
CA7589278 rs769800490	782	R>Q		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	783	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA392637807 rs376462389	784	L>M		No	ClinGen ESP TOPMed gnomAD
CA271783331 rs376462389	784	L>V		No	ClinGen ESP TOPMed gnomAD
CA7589277 rs747560013	785	L>V		No	ClinGen ExAC gnomAD
rs200403204 CA7589276	787	T>I		No	ClinGen 1000Genomes ExAC gnomAD
CA7589275 rs754520002	788	P>R		No	ClinGen ExAC gnomAD
rs751254130 CA271783319	789	K>E		No	ClinGen ExAC TOPMed gnomAD
CA7589274 rs751254130	789	K>Q		No	ClinGen ExAC TOPMed gnomAD
CA392637780 rs1237028537	789	K>R		No	ClinGen gnomAD
CA7589272 rs758814752	790	C>W		No	ClinGen ExAC gnomAD
rs765624285 CA7589270	791	L>S		No	ClinGen ExAC gnomAD
VAR_065961 rs180951130 CA7589267	795	G>R		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA7589266 rs201495758	796	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1303265445 CA392637731	797	E>Q		No	ClinGen gnomAD
CA7589265 rs775663802	797	E>V		No	ClinGen ExAC TOPMed gnomAD
rs376817753 CA7589264	800	K>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA392637700 rs1328356766	801	Q>L		No	ClinGen TOPMed gnomAD
rs762693309 CA7589263	802	G>D		No	ClinGen ExAC TOPMed gnomAD
rs769559283 CA7589261	805	K>R		No	ClinGen ExAC gnomAD
COSM162747 CA7589258 rs768199215	813	K>N	breast [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA7589256 rs779822923	814	R>Q		No	ClinGen ExAC gnomAD
CA7589257 rs746567114	814	R>W		No	ClinGen ExAC TOPMed gnomAD
CA392637616 rs1474341476	815	K>E		No	ClinGen gnomAD
rs758157067 CA7589255	816	I>V		No	ClinGen ExAC gnomAD
rs757642502 CA392637600	817	E>A		No	ClinGen ExAC TOPMed gnomAD
rs757642502 CA7589252	817	E>G		No	ClinGen ExAC TOPMed gnomAD
rs200616570 CA7589253	817	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA7589251 rs754352231	819	E>K		No	ClinGen ExAC gnomAD
rs754352231 CA392637589	819	E>Q		No	ClinGen ExAC gnomAD
rs188248622 CA7589249	820	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7589250 rs373610680	820	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA392637579 rs1271115057	821	I>L		No	ClinGen gnomAD
CA7589246 rs377012476	822	L>M		No	ClinGen ExAC gnomAD
rs183513448 CA7589244	823	S>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs183513448 CA7589245	823	S>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA392637553 rs1375514494	825	S>C		No	ClinGen gnomAD
rs746479279 CA7589241	826	L>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs746479279 CA7589240	826	L>V		No	ClinGen ExAC TOPMed gnomAD
CA7589239 rs775165841	827	S>T		No	ClinGen ExAC gnomAD
rs1264187087 CA392636737	829	M>T		No	ClinGen TOPMed
rs759043430 CA7589202	829	M>V		No	ClinGen ExAC gnomAD
rs1033120143 CA271780413	831	D>E		No	ClinGen gnomAD
rs533684267 CA7589201	835	I>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs533684267 CA392636691	835	I>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7589200 rs770556968	836	L>F		No	ClinGen ExAC gnomAD
CA392636687 rs770556968	836	L>I		No	ClinGen ExAC gnomAD
rs762514912 CA7589199	837	H>N		No	ClinGen ExAC TOPMed gnomAD
rs772914539 CA7589198	837	H>R		No	ClinGen ExAC gnomAD
rs770130521 CA7589197	838	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs770130521 CA392636677	838	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs1390115333 CA392636659	840	E>A		No	ClinGen Ensembl
rs748560935 CA7589196	841	Y>H		No	ClinGen ExAC gnomAD
rs1345880780 CA392636634	843	S>I		No	ClinGen TOPMed gnomAD
CA392636628 rs371215009	844	L>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA7589195 rs371215009	844	L>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs747064464 CA7589193	845	L>F		No	ClinGen ExAC gnomAD
CA392636602 rs1316071347	848	V>A		No	ClinGen TOPMed gnomAD
rs1566968005 CA392636595	849	F>L		No	ClinGen Ensembl
rs758582151 CA7589191	849	F>L		No	ClinGen ExAC gnomAD
CA7589190 rs750608695	851	T>I		No	ClinGen ExAC gnomAD
CA392636563 rs1486452813	854	L>V		No	ClinGen gnomAD
rs1458298112 CA392636553	855	S>R		No	ClinGen TOPMed
rs1286149548 CA392636559	855	S>R		No	ClinGen gnomAD
rs1157954291 CA392636551	856	L>V		No	ClinGen TOPMed
TCGA novel	858	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs377494998 COSM963423 CA7589187	860	R>C	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs767509482 CA7589186	860	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA392636492 rs1332659569	861	Y>C		No	ClinGen gnomAD
rs149677309 CA7589184	862	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs1246105562 CA392636447	864	K>N		No	ClinGen TOPMed
rs373150348 CA7589182	866	Q>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs2079547372 RCV001261426	871	L>P		No	ClinVar dbSNP
rs139507903 CA271780350	874	S>G		No	ClinGen ESP TOPMed gnomAD
CA7589180 rs147596471	876	T>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA392636312 rs147596471	876	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA392635813 rs1461381627	877	L>F		No	ClinGen gnomAD
CA7589155 rs78750233	882	K>E		No	ClinGen ExAC gnomAD
rs1361523276 CA392635734	882	K>I		No	ClinGen gnomAD
rs906026091 CA271779579	883	K>N		No	ClinGen Ensembl
CA392635690 rs1457896707	884	E>D		No	ClinGen gnomAD
rs771221933 CA7589153	885	N>K		No	ClinGen ExAC gnomAD
CA7589152 rs749509539	886	W>R		No	ClinGen ExAC gnomAD
CA392635638 rs1430812598	887	G>D		No	ClinGen TOPMed
rs1310802134 CA392635626	888	P>S		No	ClinGen gnomAD
rs778124523 CA7589151	889	W>C		No	ClinGen ExAC gnomAD
rs779807373 CA7589148 CA7589149	890	S>R		No	ClinGen ExAC TOPMed gnomAD
rs754699876 CA7589150	890	S>T		No	ClinGen ExAC gnomAD
CA7589147 rs569391805	891	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1301716374 CA392635574	892	G>E		No	ClinGen gnomAD
CA392635581 rs1379308183	892	G>R		No	ClinGen gnomAD
CA392635579 rs1379308183	892	G>W		No	ClinGen gnomAD
rs202237883 RCV001303058 CA7589144	893	G>D		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs753482263 CA7589143	894	S>F		No	ClinGen ExAC gnomAD
CA392635552 rs1429843267 COSM3744683	895	R>W	liver [Cosmic]	No	ClinGen cosmic curated TOPMed
rs763844757 CA7589142	897	V>A		No	ClinGen ExAC
CA392635513 CA7589141 rs760921930	898	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA7589140 rs775958627	900	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs199889674 CA7589139	901	Q>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA271779559 rs201204091	903	F>C		No	ClinGen Ensembl
CA271779563 rs201204091	903	F>S		No	ClinGen Ensembl
CA7589138 rs376625537	904	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1247037441 CA392635440	905	D>E		No	ClinGen gnomAD
rs1453643911 CA392635443	905	D>G		No	ClinGen gnomAD
rs142010359 CA7589137	905	D>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA7589136 rs142010359	905	D>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA392635435 rs1292120115	906	L>V		No	ClinGen TOPMed
CA7589135 rs749048335	907	A>G		No	ClinGen ExAC TOPMed gnomAD
CA271779552 rs754555787	907	A>P		No	ClinGen Ensembl
rs749048335 CA271779548	907	A>V		No	ClinGen ExAC TOPMed gnomAD
CA271779544 rs932599682	911	P>R		No	ClinGen Ensembl
TCGA novel	912	S>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1409156149 CA392635301	918	V>A		No	ClinGen gnomAD
rs778885841 CA7589128	921	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs756726679 CA7589127	922	P>A		No	ClinGen ExAC gnomAD
CA392635236 rs1177054606	924	L>P		No	ClinGen gnomAD
CA271779531 rs908266208	924	L>V		No	ClinGen Ensembl
CA7589126 rs372037008	925	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA7589125 rs370161809	926	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA7589124 rs755799968	929	R>C		No	ClinGen ExAC TOPMed gnomAD
rs1478732650 CA392635155	931	T>S		No	ClinGen gnomAD
rs1255536602 CA392635142	933	R>M		No	ClinGen gnomAD
rs929005690 CA271778798	935	T>S		No	ClinGen gnomAD
TCGA novel	936	T>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA392635117 rs1483711290	937	Q>P		No	ClinGen gnomAD
rs149359240 CA271778796	938	N>D		No	ClinGen ESP TOPMed gnomAD
CA392635100 rs1220239626	939	T>I		No	ClinGen TOPMed
rs1202689640 CA392635097	940	G>R		No	ClinGen TOPMed gnomAD
rs781033525 CA271778791	943	S>N		No	ClinGen ExAC TOPMed gnomAD
CA7589103 rs781033525	943	S>T		No	ClinGen ExAC TOPMed gnomAD
CA271778785 rs200025781	944	G>R		No	ClinGen 1000Genomes TOPMed
rs866915879 CA271778784	944	G>V		No	ClinGen Ensembl
TCGA novel	945	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs754409024 CA271778783	946	Q>E		No	ClinGen TOPMed gnomAD
rs1227299252 CA392635054	947	N>D		No	ClinGen gnomAD
CA392635041 rs1304265191	949	N>D		No	ClinGen gnomAD
rs1463217595 CA392635037	949	N>K		No	ClinGen TOPMed
rs766953261 CA7589101	949	N>S		No	ClinGen ExAC TOPMed gnomAD
CA7589100 rs766953261	949	N>T		No	ClinGen ExAC TOPMed gnomAD
CA392635033 rs1596345610	950	Y>S		No	ClinGen Ensembl
rs763520830 CA7589099	951	P>A		No	ClinGen ExAC TOPMed gnomAD
rs750410945 CA7589098	951	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA392635026 rs750410945	951	P>R		No	ClinGen ExAC gnomAD
CA392635011 rs1596345603	954	A>T		No	ClinGen Ensembl
CA392635003 rs1194749076	955	A>S		No	ClinGen gnomAD
CA392634995 rs1454269413	956	P>L		No	ClinGen gnomAD
CA7589097 rs765345162	956	P>T		No	ClinGen ExAC gnomAD
rs1415510263 CA392634983	958	P>L		No	ClinGen gnomAD
rs1428447035 CA392634988	958	P>T		No	ClinGen TOPMed
CA271777446 rs964330851	960	G>A		No	ClinGen gnomAD
rs780579539 CA7589083	961	Y>H		No	ClinGen ExAC gnomAD
rs1192305730 CA392634948	962	H>R		No	ClinGen gnomAD
CA7589082 rs758746078	963	Q>*		No	ClinGen ExAC gnomAD
rs765700019 CA7589080	965	G>R		No	ClinGen ExAC TOPMed gnomAD
CA271777435 rs757335728	966	V>A		No	ClinGen ExAC gnomAD
CA7589079 rs757335728	966	V>G		No	ClinGen ExAC gnomAD
CA392634895 rs1286375332	967	I>F		No	ClinGen gnomAD
rs764257635 CA392634807	973	P>S		No	ClinGen ExAC TOPMed gnomAD
CA7589077 rs764257635	973	P>T		No	ClinGen ExAC TOPMed gnomAD
rs760904881 CA7589076	975	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA392634761 rs766195298	977	A>G		No	ClinGen ExAC TOPMed gnomAD
CA7589074 rs766195298	977	A>V		No	ClinGen ExAC TOPMed gnomAD
CA7589073 RCV001303722 rs762700096	978	P>R		No	ClinGen ClinVar ExAC dbSNP gnomAD
rs1433035789 CA392634736	979	G>E		No	ClinGen TOPMed gnomAD
CA392634742 rs1160727208	979	G>R		No	ClinGen gnomAD
CA7589072 rs773179983	981	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA392634658 rs1199941202	984	N>S		No	ClinGen gnomAD
CA7589071 rs769643235	987	S>I		No	ClinGen ExAC TOPMed gnomAD
rs1047159794 CA271777411	987	S>R		No	ClinGen Ensembl
CA271777417 rs769643235	987	S>T		No	ClinGen ExAC TOPMed gnomAD
CA7589069 rs371728389	989	Y>C		No	ClinGen ESP ExAC gnomAD
CA392634581 rs1263251034	990	T>A		No	ClinGen TOPMed gnomAD
rs200958039 CA7589067	992	M>T		No	ClinGen ExAC gnomAD
rs1397770423 CA392634557	992	M>V		No	ClinGen gnomAD
CA392634540 rs1233777161	993	A>S		No	ClinGen TOPMed gnomAD
CA392634543 rs1233777161	993	A>T		No	ClinGen TOPMed gnomAD
CA7589066 rs368303961	994	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7589065 rs758757692	994	R>H		No	ClinGen ExAC TOPMed gnomAD
CA392634522 rs758757692	994	R>L		No	ClinGen ExAC TOPMed gnomAD
rs138030093 CA7589064	995	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA392634489 rs1391898247	997	L>F		No	ClinGen TOPMed
rs1401698770 CA392634477	998	P>L		No	ClinGen TOPMed gnomAD
rs1401698770 CA392634478	998	P>R		No	ClinGen TOPMed gnomAD
CA7589060 rs201083485	999	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7589058 rs752888916	999	R>P		No	ClinGen ExAC TOPMed gnomAD
CA7589057 rs752888916	999	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA7589059 rs201083485	999	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7589056 rs767683791	1000	Q>H		No	ClinGen ExAC gnomAD
rs762762940 CA7589055	1003	T>A		No	ClinGen ExAC TOPMed gnomAD
rs762762940 CA392634426	1003	T>P		No	ClinGen ExAC TOPMed gnomAD
CA392634410 rs1423759570	1004	S>N		No	ClinGen gnomAD
CA392634415 rs1478407196	1004	S>R		No	ClinGen TOPMed gnomAD
CA271777379 rs868423660	1005	S>L		No	ClinGen Ensembl
rs564470291 CA7589054	1007	R>L		No	ClinGen 1000Genomes ExAC gnomAD
rs564470291 CA7589053	1007	R>P		No	ClinGen 1000Genomes ExAC gnomAD
rs564470291 CA7589052	1007	R>Q		No	ClinGen 1000Genomes ExAC gnomAD
rs546147455 CA7589051	1011	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs775183403 CA7589048	1012	P>L		No	ClinGen ExAC TOPMed gnomAD
rs746556749 CA392634311	1012	P>S		No	ClinGen ExAC TOPMed gnomAD
CA7589049 rs746556749	1012	P>T		No	ClinGen ExAC TOPMed gnomAD
CA392634295 rs1280185350	1013	E>D		No	ClinGen gnomAD
rs1318423262 CA392634298	1013	E>G		No	ClinGen gnomAD
TCGA novel	1013	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA392634244 rs1191704396	1017	F>I		No	ClinGen gnomAD
rs771643621 CA7589047	1019	K>E		No	ClinGen ExAC gnomAD
CA7589046 rs150362312	1019	K>R		No	ClinGen ESP ExAC gnomAD
COSM1165408 CA7589044 rs770604283	1021	P>L	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA392634179 rs1566965566	1022	D>Y		No	ClinGen Ensembl
CA7589042 rs778295032	1024	G>R		No	ClinGen ExAC TOPMed gnomAD
rs1566965563 CA392634141	1024	G>V		No	ClinGen Ensembl
rs143016163 CA7589041	1025	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	1025	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA392634125 rs1403155908	1026	A>S		No	ClinGen gnomAD
rs752797200 CA7589040	1026	A>V		No	ClinGen ExAC gnomAD
rs1566961722 CA392649001	1028	V>I		No	ClinGen Ensembl
CA392648980 rs1463032558	1029	R>K		No	ClinGen gnomAD
rs773856184 CA7589009	1030	R>G		No	ClinGen ExAC gnomAD
TCGA novel	1030	R>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA392648954 rs1406316883	1031	Q>E		No	ClinGen TOPMed gnomAD
CA7589007 rs377061796	1032	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs200544334 CA7589008	1032	T>P		No	ClinGen ExAC TOPMed gnomAD
rs12592989 CA271795076	1033	T>A		No	ClinGen Ensembl
rs1381974696 CA392648909	1034	S>G		No	ClinGen TOPMed gnomAD
CA7589005 rs141980187	1034	S>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs201450652 CA7589003	1035	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7589004 rs748590186	1035	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA392648871 rs1183778337	1036	P>L		No	ClinGen gnomAD
CA392648845 rs747160675	1038	P>A		No	ClinGen ExAC TOPMed gnomAD
CA392648839 rs1346042996	1038	P>Q		No	ClinGen TOPMed
rs747160675 CA7589001	1038	P>S		No	ClinGen ExAC TOPMed gnomAD
rs780373196 CA7589000	1039	A>G		No	ClinGen ExAC TOPMed gnomAD
rs756390637 CA271795069	1039	A>T		No	ClinGen Ensembl
rs372582214 CA7588999	1040	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	1041	G>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA271795025 rs904679862	1046	Q>*		No	ClinGen Ensembl
rs369981641 CA271795015	1048	K>R		No	ClinGen ESP TOPMed gnomAD
rs1296996682 RCV000723084	1048	K>missing		No	ClinVar dbSNP
VAR_065962 RCV000591657 CA7588998 rs147579391 RCV001574773	1049	P>H		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA271795002 rs201946095	1049	P>S		No	ClinGen 1000Genomes
CA7588996 rs756028440	1051	P>S		No	ClinGen ExAC TOPMed gnomAD
rs1400237025 CA392648624	1052	Q>P		No	ClinGen gnomAD
CA7588994 rs752550528	1055	Q>K		No	ClinGen ExAC gnomAD
TCGA novel	1058	A>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7588992 rs754399653	1059	L>S		No	ClinGen ExAC gnomAD
CA7588990 rs765950153	1062	Y>C		No	ClinGen ExAC gnomAD
rs772908966 CA7588988	1064	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1489304342 CA392648390	1065	Q>H		No	ClinGen gnomAD
CA392648372 rs1171352366	1066	D>E		No	ClinGen TOPMed
CA392648377 rs1261053952	1066	D>V		No	ClinGen TOPMed
CA392648343 rs1236011421	1068	D>E		No	ClinGen TOPMed gnomAD
rs765579954 CA7588987	1069	E>K		No	ClinGen ExAC TOPMed gnomAD
CA392648319 rs1443405388	1070	L>F		No	ClinGen TOPMed gnomAD
CA392648321 rs1443405388	1070	L>V		No	ClinGen TOPMed gnomAD
rs1596337646 CA392648294	1071	S>T		No	ClinGen Ensembl
CA7588985 rs776980895	1074	A>T		No	ClinGen ExAC gnomAD
rs1566961645 CA392648238	1074	A>V		No	ClinGen Ensembl
rs188694704 CA7588983	1075	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7588984 rs188694704	1075	N>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7588982 rs775712354	1077	I>V		No	ClinGen ExAC
CA7588979 rs545492504	1079	D>G		No	ClinGen 1000Genomes ExAC gnomAD
CA392648175 rs545492504	1079	D>V		No	ClinGen 1000Genomes ExAC gnomAD
rs145140174 CA7588980	1079	D>Y		No	ClinGen ESP TOPMed gnomAD
rs376334415 CA271794899	1080	I>T		No	ClinGen ESP TOPMed
rs1218776401 CA392648150	1081	I>V		No	ClinGen gnomAD
CA392648137 rs1363452508	1082	K>Q		No	ClinGen gnomAD
CA392648128 rs1341780981	1082	K>R		No	ClinGen TOPMed
CA392648102 rs1359553771	1083	E>D		No	ClinGen gnomAD
rs779320673 CA7588977	1083	E>K		No	ClinGen ExAC gnomAD
TCGA novel	1083	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs746946170 CA7588952	1085	P>A		No	ClinGen ExAC TOPMed gnomAD
rs746946170 CA392647973	1085	P>T		No	ClinGen ExAC TOPMed gnomAD
rs140871676 CA271794303	1088	W>C		No	ClinGen ESP
CA392647869 rs1179492897	1090	T>A		No	ClinGen gnomAD
rs145345597 CA7588951	1090	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA7588950 rs757880374	1092	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA7588949 rs749958731	1092	R>Q	Variant assessed as Somatic; 4.621e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	1094	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7588948 rs778389437	1094	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA7588946 rs754088981	1096	K>R		No	ClinGen ExAC gnomAD
CA392647696 rs1352748772	1098	G>C		No	ClinGen gnomAD
CA7588942 rs558349750	1100	F>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA392647637 rs1422610518	1101	P>L		No	ClinGen TOPMed
CA7588939 rs539963253	1102	N>S		No	ClinGen 1000Genomes ExAC gnomAD
rs763223567 CA7588938	1104	Y>C		No	ClinGen ExAC TOPMed gnomAD

1 associated diseases with Q12965

[MIM: 614131]: Focal segmental glomerulosclerosis 6 (FSGS6)

A renal pathology defined by the presence of segmental sclerosis in glomeruli and resulting in proteinuria, reduced glomerular filtration rate and progressive decline in renal function. Renal insufficiency often progresses to end-stage renal disease, a highly morbid state requiring either dialysis therapy or kidney transplantation. FSGS6 is a childhood-onset disorder resulting in nephrotic syndrome, which includes massive proteinuria, hypoalbuminemia, hyperlipidemia, and edema. {ECO:0000269|PubMed:21697813, ECO:0000269|PubMed:21756023}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

A renal pathology defined by the presence of segmental sclerosis in glomeruli and resulting in proteinuria, reduced glomerular filtration rate and progressive decline in renal function. Renal insufficiency often progresses to end-stage renal disease, a highly morbid state requiring either dialysis therapy or kidney transplantation. FSGS6 is a childhood-onset disorder resulting in nephrotic syndrome, which includes massive proteinuria, hypoalbuminemia, hyperlipidemia, and edema. {ECO:0000269|PubMed:21697813, ECO:0000269|PubMed:21756023}. Note=The disease is caused by variants affecting the gene represented in this entry.

5 regional properties for Q12965

Type	Name	Position	InterPro Accession
domain	Protein kinase domain	13 - 268	IPR000719
domain	NAF domain	307 - 366	IPR004041
active_site	Serine/threonine-protein kinase, active site	132 - 144	IPR008271
binding_site	Protein kinase, ATP binding site	19 - 42	IPR017441
domain	NAF/FISL domain	305 - 329	IPR018451

Functions

		Description
EC Number
Subcellular Localization	Cytoplasm Cytoplasm, cytoskeleton Cytoplasmic vesicle Cytoplasmic vesicle, clathrin-coated vesicle Cell junction	Colocalizes with F-actin (By similarity) In cultured podocytes, it localizes close to and is associated with the cytoplasmic membrane, with enrichment at the lamellipodia tips Colocalizes with cytoplasmic vesicles, including endocytic clathrin-coated vesicles Colocalizes with dynamin at cytoplasmic vesicles
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

11 GO annotations of cellular component

Name	Definition
actin cytoskeleton	The part of the cytoskeleton (the internal framework of a cell) composed of actin and associated proteins. Includes actin cytoskeleton-associated complexes.
adherens junction	A cell-cell junction composed of the epithelial cadherin-catenin complex. The epithelial cadherins, or E-cadherins, of each interacting cell extend through the plasma membrane into the extracellular space and bind to each other. The E-cadherins bind to catenins on the cytoplasmic side of the membrane, where the E-cadherin-catenin complex binds to cytoskeletal components and regulatory and signaling molecules.
brush border	The dense covering of microvilli on the apical surface of an epithelial cell in tissues such as the intestine, kidney, and choroid plexus; the microvilli aid absorption by increasing the surface area of the cell.
clathrin-coated vesicle	A vesicle with a coat formed of clathrin connected to the membrane via one of the clathrin adaptor complexes.
cuticular plate	A dense network of actin filaments found beneath the apical cell surface of hair cells, and into which stereocilia are inserted.
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytoskeleton	A cellular structure that forms the internal framework of eukaryotic and prokaryotic cells. The cytoskeleton includes intermediate filaments, microfilaments, microtubules, the microtrabecular lattice, and other structures characterized by a polymeric filamentous nature and long-range order within the cell. The various elements of the cytoskeleton not only serve in the maintenance of cellular shape but also have roles in other cellular functions, including cellular movement, cell division, endocytosis, and movement of organelles.
extracellular exosome	A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm.
microvillus	Thin cylindrical membrane-covered projections on the surface of an animal cell containing a core bundle of actin filaments. Present in especially large numbers on the absorptive surface of intestinal cells.
myosin complex	A protein complex, formed of one or more myosin heavy chains plus associated light chains and other proteins, that functions as a molecular motor; uses the energy of ATP hydrolysis to move actin filaments or to move vesicles or other cargo on fixed actin filaments; has magnesium-ATPase activity and binds actin. Myosin classes are distinguished based on sequence features of the motor, or head, domain, but also have distinct tail regions that are believed to bind specific cargoes.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

6 GO annotations of molecular function

Name	Definition
actin filament binding	Binding to an actin filament, also known as F-actin, a helical filamentous polymer of globular G-actin subunits.
ATP binding	Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
ATP hydrolysis activity	Catalysis of the reaction: ATP + H2O = ADP + H+ phosphate. ATP hydrolysis is used in some reactions as an energy source, for example to catalyze a reaction or drive transport against a concentration gradient.
calmodulin binding	Binding to calmodulin, a calcium-binding protein with many roles, both in the calcium-bound and calcium-free states.
microfilament motor activity	A motor activity that generates movement along a microfilament, driven by ATP hydrolysis.
phosphatidylinositol binding	Binding to an inositol-containing glycerophospholipid, i.e. phosphatidylinositol (PtdIns) and its phosphorylated derivatives.

11 GO annotations of biological process

Name	Definition
actin filament organization	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising actin filaments. Includes processes that control the spatial distribution of actin filaments, such as organizing filaments into meshworks, bundles, or other structures, as by cross-linking.
endocytosis	A vesicle-mediated transport process in which cells take up external materials or membrane constituents by the invagination of a small region of the plasma membrane to form a new membrane-bounded vesicle.
glomerular basement membrane development	The process whose specific outcome is the progression of the glomerular basement membrane over time, from its formation to the mature structure. The glomerular basement membrane is the basal laminal portion of the glomerulus which performs the actual filtration.
glomerular filtration	The process in which plasma is filtered through the glomerular membrane which consists of capillary endothelial cells, the basement membrane, and epithelial cells. The glomerular filtrate is the same as plasma except it has no significant amount of protein.
in utero embryonic development	The process whose specific outcome is the progression of the embryo in the uterus over time, from formation of the zygote in the oviduct, to birth. An example of this process is found in Mus musculus.
nitrogen compound metabolic process	The chemical reactions and pathways involving organic or inorganic compounds that contain nitrogen.
platelet-derived growth factor receptor signaling pathway	The series of molecular signals initiated by a ligand binding to a platelet-derived growth factor receptor on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription.
podocyte development	The process whose specific outcome is the progression of a glomerular visceral epithelial cell over time, from its formation to the mature structure. A glomerular visceral epithelial cell is a specialized epithelial cell that contains 'feet' that interdigitate with the 'feet' of other glomerular epithelial cells.
post-embryonic hemopoiesis	The stages of blood cell formation that take place after completion of embryonic development.
vasculogenesis	The differentiation of endothelial cells from progenitor cells during blood vessel development, and the de novo formation of blood vessels and tubes.
vesicle transport along actin filament	Movement of a vesicle along an actin filament, mediated by motor proteins.

8 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P36006	MYO3	Myosin-3	Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast)	PR
O00160	MYO1F	Unconventional myosin-If	Homo sapiens (Human)	PR
B0I1T2	MYO1G	Unconventional myosin-Ig	Homo sapiens (Human)	PR
Q9UM54	MYO6	Unconventional myosin-VI	Homo sapiens (Human)	EV
Q9Y4I1	MYO5A	Unconventional myosin-Va	Homo sapiens (Human)	SS
Q9NQX4	MYO5C	Unconventional myosin-Vc	Homo sapiens (Human)	SS
Q9ULV0	MYO5B	Unconventional myosin-Vb	Homo sapiens (Human)	SS
E9Q634	Myo1e	Unconventional myosin-Ie	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MGSKGVYQYH	WQSHNVKHSG	VDDMVLLSKI	TENSIVENLK	KRYMDDYIFT	YIGSVLISVN
70	80	90	100	110	120
PFKQMPYFGE	KEIEMYQGAA	QYENPPHIYA	LADNMYRNMI	IDRENQCVII	SGESGAGKTV
130	140	150	160	170	180
AAKYIMSYIS	RVSGGGTKVQ	HVKDIILQSN	PLLEAFGNAK	TVRNNNSSRF	GKYFEIQFSP
190	200	210	220	230	240
GGEPDGGKIS	NFLLEKSRVV	MRNPGERSFH	IFYQLIEGAS	AEQKHSLGIT	SMDYYYYLSL
250	260	270	280	290	300
SGSYKVDDID	DRREFQETLH	AMNVIGIFAE	EQTLVLQIVA	GILHLGNISF	KEVGNYAAVE
310	320	330	340	350	360
SEEFLAFPAY	LLGINQDRLK	EKLTSRQMDS	KWGGKSESIH	VTLNVEQACY	TRDALAKALH
370	380	390	400	410	420
ARVFDFLVDS	INKAMEKDHE	EYNIGVLDIY	GFEIFQKNGF	EQFCINFVNE	KLQQIFIELT
430	440	450	460	470	480
LKAEQEEYVQ	EGIRWTPIEY	FNNKIVCDLI	ENKVNPPGIM	SILDDVCATM	HAVGEGADQT
490	500	510	520	530	540
LLQKLQMQIG	SHEHFNSWNQ	GFIIHHYAGK	VSYDMDGFCE	RNRDVLFMDL	IELMQSSELP
550	560	570	580	590	600
FIKSLFPENL	QADKKGRPTT	AGSKIKKQAN	DLVSTLMKCT	PHYIRCIKPN	ETKKPRDWEE
610	620	630	640	650	660
SRVKHQVEYL	GLKENIRVRR	AGYAYRRIFQ	KFLQRYAILT	KATWPSWQGE	EKQGVLHLLQ
670	680	690	700	710	720
SVNMDSDQFQ	LGRSKVFIKA	PESLFLLEEM	RERKYDGYAR	VIQKSWRKFV	ARKKYVQMRE
730	740	750	760	770	780
EASDLLLNKK	ERRRNSINRN	FIGDYIGMEE	HPELQQFVGK	REKIDFADTV	TKYDRRFKGV
790	800	810	820	830	840
KRDLLLTPKC	LYLIGREKVK	QGPDKGLVKE	VLKRKIEIER	ILSVSLSTMQ	DDIFILHEQE
850	860	870	880	890	900
YDSLLESVFK	TEFLSLLAKR	YEEKTQKQLP	LKFSNTLELK	LKKENWGPWS	AGGSRQVQFH
910	920	930	940	950	960
QGFGDLAVLK	PSNKVLQVSI	GPGLPKNSRP	TRRNTTQNTG	YSSGTQNANY	PVRAAPPPPG
970	980	990	1000	1010	1020
YHQNGVIRNQ	YVPYPHAPGS	QRSNQKSLYT	SMARPPLPRQ	QSTSSDRVSQ	TPESLDFLKV
1030	1040	1050	1060	1070	1080
PDQGAAGVRR	QTTSRPPPAG	GRPKPQPKPK	PQVPQCKALY	AYDAQDTDEL	SFNANDIIDI
1090	1100
IKEDPSGWWT	GRLRGKQGLF	PNNYVTKI